NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter)
|
rs546989392
|
0.00010
|
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter)
|
rs386833980
|
0.00004
|
NM_006493.4(CLN5):c.522dup (p.Trp175fs)
|
rs386833979
|
0.00003
|
NM_006493.2(CLN5):c.1A>C (p.Met1Leu)
|
rs1268502139
|
0.00002
|
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter)
|
rs386833971
|
0.00002
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys)
|
rs148862100
|
0.00001
|
NM_006493.2(CLN5):c.1A>G (p.Met1Val)
|
rs1268502139
|
|
NM_006493.2(CLN5):c.2T>A (p.Met1Lys)
|
rs201615354
|
|
NM_006493.4(CLN5):c.-7C>A
|
rs1555273557
|
|
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs)
|
rs1555274391
|
|
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs)
|
rs1555274402
|
|
NM_006493.4(CLN5):c.18del (p.Asp6fs)
|
rs1555273567
|
|
NM_006493.4(CLN5):c.191del (p.Pro64fs)
|
rs1555273882
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.438del (p.His148fs)
|
rs1555273992
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del)
|
rs1555274012
|
|
NM_006493.4(CLN5):c.565+1G>A
|
rs1555274014
|
|
NM_006493.4(CLN5):c.565+2dup
|
rs1476787722
|
|
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs)
|
rs1555274337
|
|
NM_006493.4(CLN5):c.705_706del (p.Leu236fs)
|
rs1555274343
|
|
NM_006493.4(CLN5):c.713_720del (p.Thr238fs)
|
rs1555274344
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter)
|
rs764495616
|
|
NM_006493.4(CLN5):c.838_841del (p.Gly280fs)
|
rs1555274365
|
|
NM_006493.4(CLN5):c.906del (p.Glu303fs)
|
rs1555274369
|
|
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter)
|
rs121908292
|
|
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer)
|
rs1555274373
|
|
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter)
|
rs750935331
|
|
NM_006493.4(CLN5):c.995del (p.Leu332fs)
|
rs1555274387
|
|